BECAUSE OF BELLA

Ryan and I were so excited to start a family.  I was fortunate to conceive easily and we were thrilled to embrace parenthood. 

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Like many expectant parents, we opted for all the prenatal tests available to us, including the Harmony test for chromosomal abnormalities and the Counsyl test, which screened for around 100 genetic diseases. All results came back normal, and my OB even described the pregnancy as “by the book.” We had no cause for concern and could never have anticipated the journey ahead.

 

On May 1, 2017, we welcomed Bella Mae into the world. She was perfect, healthy-looking, and everything we dreamed of. But by her second day in the hospital, we noticed concerning symptoms, and Bella was sent to the NICU. She spent two weeks there, enduring countless tests and procedures. An MRI revealed signs of brain damage indicative of a metabolic disorder, though her other test results were inconclusive. Doctors were perplexed, but after Bella began breathing on her own with the help of some caffeine, she was discharged. We brought her home, still without answers, and were told to take things day by day. Ryan and I were heartbroken  that Bella would have developmental challenges, but we were hopeful she would reach important milestones. Regardless, we were committed to giving her the best life possible. 

 

After four wonderful days at home, Bella suddenly stopped breathing. We rushed her to Boston Children’s Hospital, where we met Dr. Pankaj Agrawal. By a twist of fate, he was starting a research study using rapid whole exome sequencing to diagnose complex cases in newborns. Despite their best efforts, Bella’s condition deteriorated rapidly. She was placed on life support, and we were told she would have no quality of life. On May 28, 2017, at just 27 days old, Bella peacefully passed away. There are no words to describe the pain of leaving the hospital with her empty car seat and shattered hearts.

 

Five days later, Dr. Agrawal called with the results of Bella’s genetic sequencing. She had an extremely rare metabolic neurodegenerative disease called HIBCH deficiency, a recessive condition that required both Ryan and I to carry a mutation in the HIBCH gene. This gave our children a 25% chance of inheriting the disease. Bella was the 12th documented case worldwide, the youngest known patient, and the fastest to deteriorate.

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Though this diagnosis was devastating, we now knew the cause of Bella’s passing and had a path forward. Through Preimplantation Genetic Diagnosis (PGD) with IVF, we could ensure future children would not inherit HIBCH deficiency. 

 

When I became pregnant again, we chose a name that carried deep meaning: Chance. Bella had stayed alive long enough to provide the genetic answers we needed, giving us the chance to have healthy children. We now have 3 healthy and thriving children, Chance is now 5 years old, Trey is 3 years old and our daughter Ivy is 6 months old. All of our kids names pay homage to Bella. 

 

Bella’s legacy lives on. In her honor, we founded Because of Bella, a nonprofit dedicated to supporting Dr. Agrawal’s genetic research to help other families get the answers they need. While we could not save Bella, she is saving others, and that is her legacy.